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CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
[hirschsprung disease]
Mowat-
Wilson
syndrome
(
MWS
)
is
characterized
by
moderate
to
severe
intellectual
disability
and
distinctive
facial
features
in
association
with
variable
structural
congenital
anomalies
/
clinical
features
including
congenital
heart
disease
,
Hirschsprung
disease
,
hypospadias
,
agenesis
of
the
corpus
callosum
,
short
stature
,
epilepsy
,
and
microcephaly
.
Less
common
clinical
features
include
ocular
anomalies
,
craniosynostosis
,
mild
intellectual
disability
,
and
choanal
atresia
.
These
cases
may
be
more
difficult
to
diagnose
.
In
this
report
,
we
add
28
MWS
patients
with
molecular
confirmation
of
ZEB
2
mutation
,
including
seven
with
an
uncommon
presenting
feature
.
Among
the
"
unusual
"
patients
,
two
patients
had
clinical
features
of
charge
syndrome
including
choanal
atresia
,
coloboma
,
cardiac
defects
,
genitourinary
anomaly
(
1
/
2
)
,
and
severe
intellectual
disability
;
two
patients
had
craniosynostosis
;
and
three
patients
had
mild
intellectual
disability
.
Sixteen
patients
have
previously-unreported
mutations
in
ZEB
2
.
Genotype-phenotype
correlations
were
suggested
in
those
with
mild
intellectual
disability
(
two
had
a
novel
missense
mutation
in
ZEB
2
,
one
with
novel
splice
site
mutation
)
.
This
report
increases
the
number
of
reported
patients
with
MWS
with
unusual
features
,
and
is
the
first
report
of
MWS
in
children
previously
thought
to
have
CHARGE
syndrome
.
These
patients
highlight
the
importance
of
facial
gestalt
in
the
accurate
identification
of
MWS
when
less
common
features
are
present
.
Diseases
Validation
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"first report"
symptom
achondroplasia
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aniridia
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child syndrome
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congenital toxoplasmosis
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cutaneous mastocytosis
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focal myositis
harlequin ichthyosis
hirschsprung disease
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holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
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krabbe disease
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liposarcoma
lymphangioleiomyomatosis
monosomy 21
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waldenström macroglobulinemia
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zellweger syndrome
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